MCID: MTH033
MIFTS: 53

Methylmalonic Aciduria, Vitamin B12-Responsive malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Methylmalonic Aciduria, Vitamin B12-Responsive

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Aliases & Descriptions for Methylmalonic Aciduria, Vitamin B12-Responsive:

Name: Methylmalonic Aciduria, Vitamin B12-Responsive 52 12
Methylmalonic Acidemia 11 71 48 24 25 13 68
Methylmalonic Aciduria 11 24 25 27 50 68
Methylmalonic Aciduria Cbla Type 48 27 68
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla 48 54
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla 48 54
Methylmalonic Aciduria, Cbla Type 52 48
Methylmalonic Aciduria Cblb Type 11 68
Methylmalonic Aciduria Type Cbla 11 70
Methylmalonic Aciduria, Mut Type 11 12
Acidemia, Methylmalonic 48 27
Mma 48 25
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Complementation Type 48
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 11
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type 11
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl a 11
 
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl B 11
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 11
Methylmalonicaciduria Due to Methylmalonic Coa Mutase Deficiency 11
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl a 70
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl a 70
Methylmalonic Acidemia, Cblb Type 11
Methylmalonic Acidemia, Cbla Type 11
Methylmalonic Aciduria Type Cblb 11
Methylmalonic Acidemia Cbla Type 48
Methylmalonic Aciduria Mut Type 11
Isolated Methylmalonic Acidemia 25
Methylmalonic Aciduria Type a 70
Methylmalonicaciduria 24
Mma Cbl a Type 48
Mmaa 70

Characteristics:

Orphanet epidemiological data:

54
vitamin b12-responsive methylmalonic aciduria type cbla:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
methylmalonic aciduria, vitamin b12-responsive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 251100
Disease Ontology11 DOID:14749
Orphanet54 ORPHA79310
MESH via Orphanet40 C537360
ICD10 via Orphanet31 E71.1
MedGen37 C1855109
MeSH39 D008661

Summaries for Methylmalonic Aciduria, Vitamin B12-Responsive

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NIH Rare Diseases:48 Methylmalonic acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. Signs and symptoms usually appear in early infancy and vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, lethargy, hepatomegaly, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Without treatment, this condition can lead to coma and death in some cases. Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. It is inherited in an autosomal recessive fashion. Methylmalonic acidemia is treated with a low-protein, high-calorie diet, certain medications, antibiotics and, in some cases, organ transplantation. Last updated: 5/5/2016

MalaCards based summary: Methylmalonic Aciduria, Vitamin B12-Responsive, also known as methylmalonic acidemia, is related to methylmalonic aciduria and homocystinuria, cblc type and propionicacidemia, and has symptoms including seizures, muscular hypotonia and lethargy. An important gene associated with Methylmalonic Aciduria, Vitamin B12-Responsive is MMAA (Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type), and among its related pathways are superpathway of methionine degradation and Glyoxylate and dicarboxylate metabolism. Affiliated tissues include pancreas, liver and kidney, and related mouse phenotype Decreased shRNA abundance.

Disease Ontology:11 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

UniProtKB/Swiss-Prot:70 Methylmalonic aciduria type cblA: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.

Genetics Home Reference:25 Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

OMIM:52 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12)... (251100) more...

Wikipedia:71 Methylmalonic acidemia (MMA), also called methylmalonic aciduria,[help 1] is an autosomal... more...

Related Diseases for Methylmalonic Aciduria, Vitamin B12-Responsive

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Diseases in the Methylmalonic Aciduria, Vitamin B12-Responsive family:

Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type

Diseases related to Methylmalonic Aciduria, Vitamin B12-Responsive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type34.2MMACHC, MTR
2propionicacidemia31.5ACADM, HMGCL, MUT, OTC
3combined malonic and methylmalonic aciduria12.5
4methylmalonic acidemia with homocystinuria12.5
5methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type12.4
6isolated methylmalonic acidemia12.2
7mmaa-related methylmalonic acidemia12.1
8methylmalonic aciduria, mut(0) type11.7
9amyotrophy, monomelic11.3
10methylmalonic acidemia cb1a type11.2
11vitamin b12-responsive methylmalonic acidemia11.2
12transcobalamin ii deficiency10.9
13organic acidemia10.9
14amino acid metabolic disorder10.9
15juvenile hereditary hemochromatosis10.6MMAB, MUT
16adnp syndrome10.6MMAA, MTR
17homocystinuria due to mthfr deficiency10.4MTHFR, MTR
18neural tube defects, folate-sensitive10.4MTHFR, MTR
19coloboma-obesity-hypogenitalism-mental retardation syndrome10.4MTHFR, MTR
20dyskeratosis congenita, autosomal recessive 110.4ACADM, HMGCL
21saccharopinuria10.3OTC, PC
22x-linked congenital generalized hypertrichosis10.3MTHFR, MTR
23lipid pneumonia10.2MTR, TCN2
24methylmalonic aciduria and homocystinuria type cblg10.2MTHFR, MTR, TCN2
25hereditary essential tremor 510.2MTHFR, TCN2
26hepatitis d10.2MTHFR, PC
27maple syrup urine disease, type ii10.2ACADM, HMGCL, OTC
28homocystinuria due to defect in methylation cbl g10.1MMACHC, MTHFR, MTR
29leukemia, chronic lymphocytic 310.1OTC, PC
30fatal infantile encephalocardiomyopathy10.1ACADM, HMGCL
31atrial fibrillation, familial, 410.1ACADM, MTHFR, PC
32serine deficiency10.1MTHFR, MTR, MUT, TCN2
33ectopic pregnancy9.9MTHFR, MTR
34atrophic glossitis9.9ACADM, HMGCL, OTC, PC
35cc2d2a-related meckel syndrome9.8LMBRD1, MTR, MUT, TCN2
36mitochondrial dna depletion syndrome, mngie form9.8SUCLA2, SUCLG1
37color blindness9.6LMBRD1, MMADHC, MTR, TCN2
38dysferlinopathy9.5LMBRD1, MMACHC, MMADHC, MTR
39body dysmorphic disorder9.2ACADM, HMGCL, MMAA, MMAB, MMACHC, MMADHC
40autosomal recessive type iv ehlers-danlos syndrome9.1MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR
41agammaglobulinemia 29.0LMBRD1, MMAA, MMADHC, MTHFR, MTR, MUT
42tyrosinemia8.8LMBRD1, MMACHC, MMADHC, MTHFR, MTR, MUT

Graphical network of the top 20 diseases related to Methylmalonic Aciduria, Vitamin B12-Responsive:



Diseases related to methylmalonic aciduria, vitamin b12-responsive

Symptoms & Phenotypes for Methylmalonic Aciduria, Vitamin B12-Responsive

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Symptoms by clinical synopsis from OMIM:

251100

Clinical features from OMIM:

251100

Human phenotypes related to Methylmalonic Aciduria, Vitamin B12-Responsive:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 seizures64 HP:0001250
2 muscular hypotonia64 HP:0001252
3 lethargy64 HP:0001254
4 coma64 HP:0001259
5 global developmental delay64 HP:0001263
6 tremor64 HP:0001337
7 failure to thrive64 HP:0001508
8 thrombocytopenia64 HP:0001873
9 neutropenia64 HP:0001875
10 pancytopenia64 HP:0001876
11 anemia64 HP:0001903
12 metabolic acidosis64 HP:0001942
13 dehydration64 HP:0001944
14 ketosis64 HP:0001946
15 hyperammonemia64 HP:0001987
16 vomiting64 HP:0002013
17 respiratory distress64 HP:0002098
18 hyperglycinemia64 HP:0002154
19 hepatomegaly64 HP:0002240
20 methylmalonic acidemia64 HP:0002912
21 ketonuria64 HP:0002919
22 decreased adenosylcobalamin64 HP:0003145
23 decreased methylmalonyl-coa mutase activity64 HP:0003210
24 feeding difficulties in infancy64 HP:0008872
25 methylmalonic aciduria64 HP:0012120

UMLS symptoms related to Methylmalonic Aciduria, Vitamin B12-Responsive:


hepatomegaly, lethargy, vomiting, respiratory distress, seizures, tremor, chyluria, pneumatouria, traumatic hematuria

GenomeRNAi Phenotypes related to Methylmalonic Aciduria, Vitamin B12-Responsive according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00251-A-19.0ACSF3, MMACHC, MTR, TCN2

Drugs & Therapeutics for Methylmalonic Aciduria, Vitamin B12-Responsive

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Drugs for Methylmalonic Aciduria, Vitamin B12-Responsive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 3, Phase 224813422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
Hydro Cobex
 
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
2
MetronidazoleapprovedPhase 3454443-48-14173
Synonyms:
1-(2-hydroxy-1-ethyl)-2-methyl-5-nitroimidazole
1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(beta-Hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Oxyethyl)-2-methyl-5-nitroimidazole
1-(β-ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(β-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(β-oxyethyl)-2-methyl-5-nitroimidazole
1-Hydroxyethyl-2-methyl-5-nitroimidazole
2-(2-methyl-5-nitroimidazol-1-yl)ethanol
2-Methyl-5-nitro-1-imidazoleethanol
2-Methyl-5-nitroimidazole-1-ethanol
2-methyl-1-(2-hydroxyethyl)-5-nitroimidazole
2-methyl-3-(2-hydroxyethyl)-4-nitroimidazole
2-methyl-5-nitroimidazole-1-ethanol
443-48-1
46461_FLUKA
46461_RIEDEL
69198-10-3 (mono-hydrochloride)
99616-64-5
AB00052046
AC-10556
AC1L1HKS
AC1Q2P2Z
AKOS000269646
APMN
ARONIS24285
Acromona
Anagiardil
Apo-Metronidazole
Arilin
Atrivyl
BAS 02983617
BAY-5360
BCBcMAP01_000184
BIDD:GT0107
BPBio1_000004
BRD-K52020312-001-05-2
BRN 0611683
BSPBio_000002
BSPBio_002031
Bayer 5360
Bexon
Bio-0694
CAS-443-48-1
CB-01-14 MMX
CCRIS 410
CHEBI:39845
CHEBI:6909
CHEMBL137
CID4173
CONT
CPD000058175
Caswell No. 579AA
Clont
D00409
DB00916
Danizol
Deflamon
Deflamon-wirkstoff
DivK1c_000007
EINECS 207-136-1
EPA Pesticide Chemical Code 120401
Efloran
Elyzol
Entizol
Eumin
FLAGYL I.V. RTU IN PLASTIC CONTAINER
Flagemona
Flagesol
Flagil
Flagyl
Flagyl (TN)
Flagyl 375
Flagyl Er
Flagyl I.V.
Flagyl I.V. RTU
Flegyl
Florazole
Fossyol
Giatricol
Ginefla vir
Gineflavir
HMS1568A04
HMS1920N19
HMS2051G07
HMS2090B19
HMS2091F14
HMS500A09
HMS547C19
HSDB 3129
I14-0667
IDI1_000007
IDR-90105
KBio1_000007
KBio2_001515
KBio2_004083
KBio2_006651
KBio3_001531
KBioGR_000559
KBioSS_001515
Klion
Klont
LS-1264
M0924
M1547_SIGMA
M3761_FLUKA
M3761_SIGMA
M9036_SIGMA
METRO I.V
METRONIDAZOLE USP
MLS000028590
MLS000758286
Maybridge1_001999
Meronidal
Methronidazole
Methyl-5-nitroimidazole-1-ethanol
 
Metric
Metric 21
Metro Cream
Metro Gel
Metro I.V.
Metro I.V. In Plastic Container
MetroCream
MetroGel
MetroGel-Vaginal
MetroLotion
Metrodzhil
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole [USAN:INN:BAN:JAN]
Metronidazole in Plastic Container
Metronidazolo
Metronidazolo [DCIT]
Metronidazolum
Metronidazolum [INN-Latin]
Metrotop
Metrozine
Metryl
Mexibol
Mexibol 'silanes'
MolPort-000-141-892
MolPort-002-502-101
Monagyl
Monasin
NCGC00016446-01
NCGC00016446-02
NCGC00022059-03
NCGC00022059-04
NCGC00022059-05
NCIOpen2_000337
NIDA
NINDS_000007
NSC 50364
NSC 69587
NSC-50364
NSC50364
NSC69587
Nalox
Nidagel
Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
Rathimed
Rosased
S1907_Selleck
SAM001247010
SBB041018
SC 10295
SMP1_000189
SMR000058175
SPBio_000666
SPBio_001941
SPECTRUM1500412
STK177359
Sanatrichom
Satric
Spectrum2_000883
Spectrum3_000506
Spectrum4_000060
Spectrum5_001289
Spectrum_001035
Takimetol
Trichazol
Trichex
Tricho cordes
Tricho-gynaedron
Trichocide
Trichomol
Trichomonacid 'pharmachim'
Trichopal
Trichopol
Tricocet
Tricom
Tricowas B
Trikacide
Trikamon
Trikojol
Trikozol
Trimeks
Trivazol
UNII-140QMO216E
Vagilen
Vagimid
Vandazole
Vertisal
WLN: T5N CNJ A2Q B1 ENW
WLN: T5N CNJA2Q B1 ENW
WLN: T6NTJ DQ ANU1- ET5N CNJ A1 BNW
Wagitran
ZERO/004064
ZINC00113442
Zadstat
Zidoval
giniflavir
metronidazole
neo-Tric
3
Cyanocobalaminapproved, nutraceuticalPhase 3, Phase 224968-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
Erycytol
 
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
4
Biotinapproved, nutraceuticalPhase 34358-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
5Vitamin B 12Phase 3, Phase 2249
6VitaminsPhase 3, Phase 25095
7Vitamin B ComplexPhase 3, Phase 24229
8Vitamin B12NutraceuticalPhase 3, Phase 2249
9
Methylcobalaminexperimental, NutraceuticalPhase 3, Phase 224813422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
10
CobalaminNutraceuticalPhase 3, Phase 224913408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
11Vitamin B7NutraceuticalPhase 343
12carnitineNutraceuticalPhase 3158
13
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
14UbiquinonePhase 2139
15Trace ElementsPhase 25802
16MicronutrientsPhase 25802
17HematinicsPhase 21630
18AntioxidantsPhase 22928
19FolateNutraceuticalPhase 24279
20Vitamin B9NutraceuticalPhase 24279
21
OrnithineNutraceuticalPhase 2693184-13-26262, 389
Synonyms:
(+)-S-Ornithine
(+/-)-2,5-Diaminopentanoic acid monohydrochloride
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
(S)-a,D-Diaminovaleric acid
2,5-Diaminopentanoic acid hydrochloride
5-Amino-L-Norvaline
D -2,5-Diaminopentanoic acid
D-Ornithine
DL -2,5-Diaminopentanoic acid
DL-ornithine
DL-ornithine HCL
DL-ornithine monohydrochloride
DL-ornithine, hydrochloride
 
L -2,5-Diaminopentanoic acid
L-(-)-Ornithine
L-Ornithine
L-Ornithine hydrochloride
L-Ornithine hydrochloride (van)
L-Ornithine monohydrochloride
L-Ornithine, monohydrochloride
L-Ornithine-carboxy-14C hydrochloride
MonohydrochlorideDL-Ornithine
Monohydrochloridel-Ornithine
Ornithine DL-form HCL
Ornithine DL-form monohydrochloride
Ornithine hydrochloride
Ornithine hydrochloride (van)
Ornithine monohydrochloride
Ornithine, hydrochloride (1:1)
Ornithine, monohydrochloride
Poly-L-ornithine hydrochloride
22Glutamic AcidNutraceuticalPhase 2214

Interventional clinical trials:

idNameStatusNCT IDPhase
1Carglumic Acid in Methylmalonic Acidemia and Propionic AcidemiaRecruitingNCT02426775Phase 3
2EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentUnknown statusNCT01793090Phase 2
3Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
4Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaRecruitingNCT01599286Phase 2
5Ataluren for Nonsense Mutation Methylmalonic AcidemiaSuspendedNCT01141075Phase 2
6Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic AcidemiaTerminatedNCT01597440Phase 2
7Increasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateWithdrawnNCT01341379Phase 2
8Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome StudyUnknown statusNCT01289158
9Clinical and Laboratory Study of Methylmalonic AcidemiaRecruitingNCT00078078
10Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolEnrolling by invitationNCT02322177

Search NIH Clinical Center for Methylmalonic Aciduria, Vitamin B12-Responsive

Genetic Tests for Methylmalonic Aciduria, Vitamin B12-Responsive

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Genetic tests related to Methylmalonic Aciduria, Vitamin B12-Responsive:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia27 24
2 Methylmalonic Aciduria Cbla Type27
3 Methylmalonic Aciduria27

Anatomical Context for Methylmalonic Aciduria, Vitamin B12-Responsive

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MalaCards organs/tissues related to Methylmalonic Aciduria, Vitamin B12-Responsive:

36
Pancreas, Liver, Kidney

Publications for Methylmalonic Aciduria, Vitamin B12-Responsive

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Variations for Methylmalonic Aciduria, Vitamin B12-Responsive

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UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria, Vitamin B12-Responsive:

70 (show all 11)
id Symbol AA change Variation ID SNP ID
1MMAAp.Tyr207CysVAR_017202rs104893849
2MMAAp.Leu89ProVAR_020835rs864309726
3MMAAp.Arg145GlnVAR_020836rs200577967
4MMAAp.Gly218GluVAR_020837rs864309730
5MMAAp.Arg359GlnVAR_020838rs864309731
6MMAAp.Arg359GlyVAR_038804
7MMAAp.Arg209SerVAR_071919
8MMAAp.Glu250LysVAR_071920
9MMAAp.Gly274AspVAR_071921
10MMAAp.Gly274SerVAR_071922
11MMAAp.Lys276GluVAR_071923

Clinvar genetic disease variations for Methylmalonic Aciduria, Vitamin B12-Responsive:

5 (show all 54)
id Gene Variation Type Significance SNP ID Assembly Location
1MUTNM_000255.3(MUT): c.1207C> T (p.Arg403Ter)SNVPathogenicrs727504020GRCh38Chr 6, 49451591: 49451591
2MUTNM_000255.3(MUT): c.280G> A (p.Gly94Arg)SNVPathogenicrs727504022GRCh37Chr 6, 49426900: 49426900
3MUTNM_000255.3(MUT): c.313T> C (p.Trp105Arg)SNVPathogenicrs121918249GRCh37Chr 6, 49426867: 49426867
4MUTNM_000255.3(MUT): c.2150G> T (p.Gly717Val)SNVPathogenicrs121918252GRCh37Chr 6, 49399544: 49399544
5MUTNM_000255.3(MUT): c.655A> T (p.Asn219Tyr)SNVPathogenicrs121918256GRCh37Chr 6, 49425502: 49425502
6MMAANM_172250.2(MMAA): c.593_596delCTGA (p.Thr198Serfs)deletionPathogenicrs796051993GRCh38Chr 4, 145646016: 145646019
7MMAANM_172250.2(MMAA): c.988C> T (p.Arg330Ter)SNVPathogenicrs571038432GRCh37Chr 4, 146576317: 146576317
8MMABNM_052845.3(MMAB): c.569G> A (p.Arg190His)SNVPathogenicrs756414548GRCh38Chr 12, 109561055: 109561055
9MMABNM_052845.3(MMAB): c.700C> T (p.Gln234Ter)SNVPathogenicrs369296618GRCh37Chr 12, 109994886: 109994886
10MUTNM_000255.3(MUT): c.1106G> A (p.Arg369His)SNVPathogenicrs564069299GRCh37Chr 6, 49419405: 49419405
11MUTNM_000255.3(MUT): c.1108A> C (p.Thr370Pro)SNVLikely pathogenic, Pathogenicrs368790885GRCh37Chr 6, 49419403: 49419403
12MUTNM_000255.3(MUT): c.1663G> A (p.Ala555Thr)SNVLikely pathogenic, Pathogenicrs753564352GRCh37Chr 6, 49412365: 49412365
13MUTNM_000255.3(MUT): c.572C> A (p.Ala191Glu)SNVPathogenicrs760782399GRCh38Chr 6, 49457872: 49457872
14MUTNM_000255.3(MUT): c.890C> T (p.Thr297Ile)SNVPathogenicrs547709692GRCh37Chr 6, 49423814: 49423814
15MMABNM_052845.3(MMAB): c.520_584del65SNVPathogenicrs756195708GRCh38Chr 12, 109561040: 109561040
16MMABNM_052845.3(MMAB): c.287T> C (p.Ile96Thr)SNVPathogenicrs864309509GRCh37Chr 12, 110006578: 110006578
17MMABNM_052845.3(MMAB): c.571C> T (p.Arg191Trp)SNVPathogenicrs376128990GRCh38Chr 12, 109561053: 109561053
18MMABNM_052845.3(MMAB): c.349_354delATCCAGSNVPathogenicrs864309510GRCh38Chr 12, 109561853: 109561853
19MMABNM_052845.3(MMAB): c.197_290del94SNVPathogenicrs864309511GRCh38Chr 12, 109568770: 109568770
20MMABNM_052845.3(MMAB): c.570_572dupCCG (p.Arg191_Ala192insArg)duplicationPathogenicrs864309512GRCh37Chr 12, 109998857: 109998859
21MMABNM_052845.3(MMAB): c.548A> T (p.His183Leu)SNVPathogenicrs752866643GRCh37Chr 12, 109998881: 109998881
22MMAANM_172250.2(MMAA): c.64C> T (p.Arg22Ter)SNVPathogenicrs765799472GRCh38Chr 4, 145639203: 145639203
23MMAANM_172250.2(MMAA): c.161G> A (p.Trp54Ter)SNVPathogenicrs864309725GRCh38Chr 4, 145639300: 145639300
24MMAANM_172250.2(MMAA): c.266T> C (p.Leu89Pro)SNVPathogenicrs864309726GRCh38Chr 4, 145639405: 145639405
25MMAANM_172250.2(MMAA): c.358C> T (p.Gln120Ter)SNVPathogenicrs864309727GRCh38Chr 4, 145639497: 145639497
26MMAANM_172250.2(MMAA): c.397C> T (p.Gln133Ter)SNVPathogenicrs754545360GRCh38Chr 4, 145639536: 145639536
27MMAANM_172250.2(MMAA): c.503delC (p.Thr168Metfs)deletionPathogenicrs864309728GRCh38Chr 4, 145642426: 145642426
28MMAANM_172250.2(MMAA): c.562G> C (p.Gly188Arg)SNVPathogenicrs864309729GRCh38Chr 4, 145642485: 145642485
29MMAANM_172250.2(MMAA): c.650T> A (p.Leu217Ter)SNVPathogenicrs140356252GRCh37Chr 4, 146567225: 146567225
30MMAANM_172250.2(MMAA): c.653G> A (p.Gly218Glu)SNVPathogenicrs864309730GRCh37Chr 4, 146567228: 146567228
31MMAANM_172250.2(MMAA): c.733+1G> ASNVPathogenicrs779939886GRCh37Chr 4, 146567309: 146567309
32MMAANM_172250.2(MMAA): c.1076G> A (p.Arg359Gln)SNVPathogenicrs864309731GRCh38Chr 4, 145655253: 145655253
33MMABNM_052845.3(MMAB): c.291-1G> ASNVPathogenicrs199971687GRCh38Chr 12, 109565177: 109565177
34MMABNM_052845.3(MMAB): c.403G> A (p.Ala135Thr)SNVPathogenicrs35648932GRCh37Chr 12, 109999603: 109999603
35MMABNM_052845.3(MMAB): c.572G> A (p.Arg191Gln)SNVPathogenicrs746219370GRCh37Chr 12, 109998857: 109998857
36MMABNM_052845.3(MMAB): c.656A> G (p.Tyr219Cys)SNVPathogenicrs765547005GRCh38Chr 12, 109557125: 109557125
37MMABNM_052845.3(MMAB): c.197-1G> TSNVPathogenicrs763935916GRCh38Chr 12, 109568864: 109568864
38MUTNM_000255.3(MUT): c.2200C> T (p.Gln734Ter)SNVPathogenicrs879253852GRCh37Chr 6, 49399494: 49399494
39MMABNM_052845.3(MMAB): c.563T> G (p.Val188Gly)SNVPathogenicrs869320654GRCh38Chr 12, 109561061: 109561061
40MMABNM_052845.3(MMAB): c.2T> C (p.Met1Thr)SNVPathogenicrs869320655GRCh37Chr 12, 110011284: 110011284
41MMAANM_172250.2(MMAA): c.562+1G> ASNVPathogenicrs869320656GRCh37Chr 4, 146563638: 146563638
42MMAANM_172250.2(MMAA): c.1025T> G (p.Met342Arg)SNVPathogenicrs869320657GRCh37Chr 4, 146576354: 146576354
43MMABNM_052845.3(MMAB): c.556C> T (p.Arg186Trp)SNVPathogenicrs28941784GRCh37Chr 12, 109998873: 109998873
44MMABMMAB, IVS3, G-A, -1SNVPathogenicChr na, -1: -1
45MMABMMAB, 5-BP DEL, NT572deletionPathogenicChr na, -1: -1
46MMAAMMAA, 4-BP DEL, 592ACTGdeletionPathogenicChr na, -1: -1
47MMAAMMAA, 8-BP INS, NT260insertionPathogenicChr na, -1: -1
48MMAANM_172250.2(MMAA): c.283C> T (p.Gln95Ter)SNVPathogenicrs104893846GRCh37Chr 4, 146560574: 146560574
49MMAANM_172250.2(MMAA): c.620A> G (p.Tyr207Cys)SNVPathogenicrs104893849GRCh37Chr 4, 146567195: 146567195
50MMAANM_172250.2(MMAA): c.433C> T (p.Arg145Ter)SNVPathogenicrs104893851GRCh37Chr 4, 146560724: 146560724
51MUTNM_000255.3(MUT): c.1445-2A> GSNVPathogenicrs398123276GRCh37Chr 6, 49415500: 49415500
52MUTNM_000255.3(MUT): c.1852_1854delCTT (p.Leu618del)deletionPathogenicrs398123277GRCh37Chr 6, 49408021: 49408023
53MUTNM_000255.3(MUT): c.91C> T (p.Arg31Ter)SNVPathogenicrs398123278GRCh37Chr 6, 49427089: 49427089
54MMABNM_052845.3(MMAB): c.568C> T (p.Arg190Cys)SNVPathogenicrs398124434GRCh37Chr 12, 109998861: 109998861

Expression for genes affiliated with Methylmalonic Aciduria, Vitamin B12-Responsive

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Search GEO for disease gene expression data for Methylmalonic Aciduria, Vitamin B12-Responsive.

Pathways for genes affiliated with Methylmalonic Aciduria, Vitamin B12-Responsive

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Pathways related to Methylmalonic Aciduria, Vitamin B12-Responsive according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0MCEE, MUT
210.0MCEE, MUT
3
Show member pathways
9.6MTHFR, MTR, TCN2
4
Show member pathways
9.5ACADM, MCEE, MMAA, MUT
59.2LMBRD1, MMACHC, TCN2
6
Show member pathways
9.1SUCLA2, SUCLG1
7
Show member pathways
8.9ACADM, ACSF3, HMGCL, MCEE, MUT
8
Show member pathways
8.8PC, SUCLA2, SUCLG1
9
Show member pathways
8.7ACADM, ACSF3, HMGCL, MCEE, MMAA, MUT
108.3ACADM, MCEE, MUT, SUCLA2, SUCLG1
11
Show member pathways
8.3MMAA, MMACHC, MMADHC, MTR, MUT, PC
127.8LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTR
13
Show member pathways
7.1ACADM, MCEE, MTHFR, MTR, MUT, OTC
14
Show member pathways
7.1LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTHFR
15
Show member pathways
4.1ACADM, ACSF3, HMGCL, LMBRD1, MCEE, MMAA

GO Terms for genes affiliated with Methylmalonic Aciduria, Vitamin B12-Responsive

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Cellular components related to Methylmalonic Aciduria, Vitamin B12-Responsive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057597.2ACADM, ACSF3, HMGCL, MCEE, MMAA, MMAB
2mitochondrionGO:00057395.8ACADM, ACSF3, HMGCL, MCEE, MMAB, MMACHC

Biological processes related to Methylmalonic Aciduria, Vitamin B12-Responsive according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:005066710.5MTHFR, MUT
2short-chain fatty acid catabolic processGO:001962610.2MCEE, MMAA, MUT
3cobalamin biosynthetic processGO:000923610.2MMAA, MMAB, MMACHC
4cobalamin transportGO:001588910.1LMBRD1, TCN2
5liver developmentGO:000188910.0ACADM, HMGCL, OTC
6succinate metabolic processGO:00061059.5SUCLA2, SUCLG1
7succinyl-CoA metabolic processGO:00061049.5SUCLA2, SUCLG1
8tricarboxylic acid cycleGO:00060999.1SUCLA2, SUCLG1
9cobalamin metabolic processGO:00092358.3LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTR

Molecular functions related to Methylmalonic Aciduria, Vitamin B12-Responsive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:000006210.1ACADM, HMGCL
2modified amino acid bindingGO:00723419.8MTHFR, MUT
3succinate-CoA ligase (ADP-forming) activityGO:00047759.1SUCLA2, SUCLG1
4cobalamin bindingGO:00314199.1LMBRD1, MMACHC, MTR, MUT, TCN2

Sources for Methylmalonic Aciduria, Vitamin B12-Responsive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet